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Functional Assay to Investigate Unclassified Sequence Variants of Mismatch Repair Genes Market Sector: Oncology, genetics, gastroenterology, colorectal cancer Fig. 1 Top panel: Mismatch repair defect . Bottom panel: No mismatch repair defect. Colorectal cancer is a major public health problem throughout the world. Several dietary and environmental risk factors have been identified, and there is also a significant genetic contribution to the aetiology of the condition. An inborn defect in one of the DNA mismatch repair (MMR) genes underlies cancer predisposition in patients with Hereditary Nonpolyposis Colorectal Cancer (HNPCC). Currently, subtle gene alterations (e.g. one amino acid) are found in 30% of putative patients. Patients with such an alteration, cannot be properly diagnosed because not all alterations result in a dysfunctional protein. Therefore, carriers of an ambiguous alteration, but also unaffected first-degree relatives require periodic colonoscopy and for women additional periodic transvaginal echography to detect onset of the disease at an early stage. Albinusdreef 2, PoBox 9600, 2300 RC Leiden, The Netherlands LEIDEN UNIVERSITY MEDICAL CENTER It is amongst the objects of the present invention to provide an easily applicable in vitro assay for detecting whether or not an amino acid alteration in a MMR gene leads to a loss or reduction in MMR and as a consequence the potential to develop, for example, cancer such as in HNPCC. Thus, the invention enables correct diagnosis in more presumed HNPCC patients. Keywords Key Benefits Hereditary Non-polyposis Colorectal Cancer (HNPCC), Lynch Syndrome testing of subtle mutations which are found in 30% of putative HNPCC patients Current study non-invasive, completely in vitro assay The method is proven to work in principal for no patient material required the three major MMR genes implied in HNPCC; Patients with mutations that are the assay of the fourth gene is in progress. We diagnosed as pathogenic are advised to are working on improving the method to enroll periodic screening whereas first- optimize sensitivity and throughput. degree relatives that do not carry the The method can and should be validated using mutation can be released from a patient panel. This is currently underway. screening For further information, please contact LUMC. Patent / IP Status Commercial Partner Sought LUMC seeks to find a company / companies who has / have extensive experience in the development and production of kits or Patent application filed April 2007 Applications Diagnosis and screening in vitro assay companies that could perform / have the capacity to perform diagnostic services. Contact details Mrs. drs. Hester Tak, Tech Transfer Advisor, [email protected] Tel. +31 71 526 3033, Fax +31 71 526 6882 www.lumc.nl Leiden University Medical Center (LUMC) is strongly committed to the advancement of health care, through research and innovation. In particular, the focus is on translational research, with the overall aim to accelerate transfer of findings from the laboratory to clinical application, and to the market. LUMC has a reputation as a pioneering institute in its field, both nationally and internationally. LEIDEN UNIVERSITY MEDICAL CENTER